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Aliases for NSMCE1 Gene

Aliases for NSMCE1 Gene

  • NSE1 Homolog, SMC5-SMC6 Complex Component 2 3 5
  • Non-SMC Element 1 Homolog 3 4
  • Non-SMC Element 1 Homolog (S. Cerevisiae) 2
  • EC 6.3.2.- 4
  • NSE1 3

External Ids for NSMCE1 Gene

Previous GeneCards Identifiers for NSMCE1 Gene

  • GC16M027144
  • GC16M025325

Summaries for NSMCE1 Gene

GeneCards Summary for NSMCE1 Gene

NSMCE1 (NSE1 Homolog, SMC5-SMC6 Complex Component) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for NSMCE1 Gene

  • Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Has in vitro ubiquitin ligase activity in presence of NSMCE3. Is involved in positive regulation of response to DNA damage stimulus.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMCE1 Gene

Genomics for NSMCE1 Gene

Regulatory Elements for NSMCE1 Gene

Promoters for NSMCE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSMCE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NSMCE1 Gene

Chromosome:
16
Start:
27,224,991 bp from pter
End:
27,268,809 bp from pter
Size:
43,819 bases
Orientation:
Minus strand

Genomic View for NSMCE1 Gene

Genes around NSMCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMCE1 Gene

Proteins for NSMCE1 Gene

  • Protein details for NSMCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV22-NSE1_HUMAN
    Recommended name:
    Non-structural maintenance of chromosomes element 1 homolog
    Protein Accession:
    Q8WV22
    Secondary Accessions:
    • D3DWF6
    • Q9P045
    • Q9P049

    Protein attributes for NSMCE1 Gene

    Size:
    266 amino acids
    Molecular mass:
    30855 Da
    Quaternary structure:
    • Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5:SMC6 heterodimer.
    SequenceCaution:
    • Sequence=AAF29011.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAF29015.1; Type=Frameshift; Positions=147; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSMCE1 Gene

neXtProt entry for NSMCE1 Gene

Proteomics data for NSMCE1 Gene at MOPED

Post-translational modifications for NSMCE1 Gene

Antibody Products

No data available for DME Specific Peptides for NSMCE1 Gene

Domains & Families for NSMCE1 Gene

Gene Families for NSMCE1 Gene

Protein Domains for NSMCE1 Gene

Suggested Antigen Peptide Sequences for NSMCE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WV22

UniProtKB/Swiss-Prot:

NSE1_HUMAN :
  • Belongs to the NSE1 family.
  • Contains 1 NSE1-type zinc finger.
Family:
  • Belongs to the NSE1 family.
Similarity:
  • Contains 1 NSE1-type zinc finger.
genes like me logo Genes that share domains with NSMCE1: view

Function for NSMCE1 Gene

Molecular function for NSMCE1 Gene

UniProtKB/Swiss-Prot Function:
Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Has in vitro ubiquitin ligase activity in presence of NSMCE3. Is involved in positive regulation of response to DNA damage stimulus.

Enzyme Numbers (IUBMB) for NSMCE1 Gene

Gene Ontology (GO) - Molecular Function for NSMCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with NSMCE1: view
genes like me logo Genes that share phenotypes with NSMCE1: view

Animal Model Products

CRISPR Products

miRNA for NSMCE1 Gene

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSMCE1 Gene

Localization for NSMCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMCE1 Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSMCE1 Gene COMPARTMENTS Subcellular localization image for NSMCE1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for NSMCE1 Gene

Pathways & Interactions for NSMCE1 Gene

genes like me logo Genes that share pathways with NSMCE1: view

Gene Ontology (GO) - Biological Process for NSMCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0006301 postreplication repair IBA --
GO:0016925 protein sumoylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with NSMCE1: view

No data available for SIGNOR curated interactions for NSMCE1 Gene

Drugs & Compounds for NSMCE1 Gene

No Compound Related Data Available

Transcripts for NSMCE1 Gene

Unigene Clusters for NSMCE1 Gene

Non-SMC element 1 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSMCE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c · 14d
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7: - -
SP8: -
SP9:
SP10: - - - - -

Relevant External Links for NSMCE1 Gene

GeneLoc Exon Structure for
NSMCE1
ECgene alternative splicing isoforms for
NSMCE1

Expression for NSMCE1 Gene

mRNA expression in normal human tissues for NSMCE1 Gene

Protein differential expression in normal tissues from HIPED for NSMCE1 Gene

This gene is overexpressed in Breast (24.9), Peripheral blood mononuclear cells (10.8), Blymphocyte (8.7), and Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSMCE1 Gene



SOURCE GeneReport for Unigene cluster for NSMCE1 Gene Hs.284295

genes like me logo Genes that share expression patterns with NSMCE1: view

Protein tissue co-expression partners for NSMCE1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NSMCE1 Gene

Orthologs for NSMCE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NSMCE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSMCE1 35
  • 87.89 (n)
  • 90.23 (a)
NSMCE1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSMCE1 35
  • 87.72 (n)
  • 91.35 (a)
NSMCE1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsmce1 35
  • 86.09 (n)
  • 89.47 (a)
Nsmce1 16
Nsmce1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSMCE1 35
  • 99 (n)
  • 99.25 (a)
NSMCE1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsmce1 35
  • 86.34 (n)
  • 91.73 (a)
oppossum
(Monodelphis domestica)
Mammalia NSMCE1 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMCE1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMCE1 35
  • 66.09 (n)
  • 60.87 (a)
NSMCE1 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSMCE1 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmce1 35
  • 60.82 (n)
  • 51.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68739 35
zebrafish
(Danio rerio)
Actinopterygii nsmce1 35
  • 56.62 (n)
  • 45.85 (a)
nsmce1 36
  • 46 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10623 35
fruit fly
(Drosophila melanogaster)
Insecta CG11329 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSE1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToOne
Species with no ortholog for NSMCE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSMCE1 Gene

ENSEMBL:
Gene Tree for NSMCE1 (if available)
TreeFam:
Gene Tree for NSMCE1 (if available)

Paralogs for NSMCE1 Gene

No data available for Paralogs for NSMCE1 Gene

Variants for NSMCE1 Gene

Sequence variations from dbSNP and Humsavar for NSMCE1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs7195194 - 27,257,458(+) AGTGC(A/C/G)TCTGC reference, missense, utr-variant-5-prime
rs17856580 - 27,235,296(+) TGGCA(C/T)TGCCT reference, missense, utr-variant-5-prime
rs2958 -- 27,225,082(+) AACAC(A/G)GACGC utr-variant-3-prime
rs1127228 -- 27,226,789(-) ATGGA(A/G)CAATA reference, synonymous-codon
rs4238951 -- 27,251,205(+) ATATA(A/T)ATAAA intron-variant

Variation tolerance for NSMCE1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMCE1 Gene

HapMap Linkage Disequilibrium report
NSMCE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NSMCE1 Gene

Disorders for NSMCE1 Gene

Relevant External Links for NSMCE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMCE1

No disorders were found for NSMCE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NSMCE1 Gene

Publications for NSMCE1 Gene

  1. Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families. (PMID: 21364888) Hudson J.J. … Palecek J. (PLoS ONE 2011) 3 4 67
  2. Identification of a novel non-structural maintenance of chromosomes (SMC) component of the SMC5-SMC6 complex involved in DNA repair. (PMID: 11927594) Fujioka Y. … Kohno K. (J. Biol. Chem. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Mining and characterization of ubiquitin E3 ligases expressed in the mouse testis. (PMID: 22992278) Hou X. … Han C. (BMC Genomics 2012) 3

Products for NSMCE1 Gene

Sources for NSMCE1 Gene

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